Bettina Lorenz‐Depiereux

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

Kenneth E. White, W. Evans, Jeffery L.H. O'Riordan et al. · Nature Genetics · 2000 · 1.5K citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

Martin Dichgans, Tobias Freilinger, Gertrud Eckstein et al. · The Lancet · 2005 · 842 citations

Channelopathies, Neurophysiology, Neurotransmission +8

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

Bettina Lorenz‐Depiereux, Murat Bastepe, Anna Benet‐Pagès et al. · Nature Genetics · 2006 · 514 citations · Full text

Developmental Biology, Bone Morphogenic Protein, Genetics +9

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia

Anna Benet‐Pagès, Peter Orlik, Tim M. Strom et al. · Human Molecular Genetics · 2004 · 500 citations

Fgf23 Gene, Tumor Biology, Intact Fgf23 +12

Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23

Kenneth E. White, Gwénaëlle Carn, Bettina Lorenz‐Depiereux et al. · Kidney International · 2001 · 493 citations

Genetics, Autosomal-dominant Hypophosphatemic Rickets, Fibroblast Growth Factor +1